Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S606R

SLC26A4

1,372 papers

RefSeq Summary

Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar ...

Pfam Domains

Sulfate_transpaa 84–485UCSCSulfate permease family
STASaa 536–725UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 4

HGNC Previous Symbol

DFNB4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000441.2
p.S606R
c.1818T>A
Surrounding Variants
1 paper
NM_000441.2
p.S606R
c.1818T>G
1 paper
NM_000441.2
p.S606R
c.1816A>C
1 paper
NM_000441.2
p.A608G
c.1823C>G
3 papers
NM_000441.2
p.V609delFs
c.1825delG
2 papers
NM_000441.2
p.V609A
c.1826T>C
40 papers
NM_000441.2
p.V609G
c.1826T>G
21 papers
NM_000441.2
p.S610*
c.1829C>A
18 papers
NM_000441.2
p.S610*
c.1829C>G
4 papers
NM_000441.2
p.N612delFs
c.1835delA
2 papers
NM_000441.2
p.N612fs
c.1834_1835fs
13 papers
NM_000441.2
p.K601_N602Splc
c.1804-6G>A
1 paper
NM_000441.2
p.E616D
c.1848G>C
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